Linked Data
ClinVar Variation Id:
60512
dbSNP Id:
rs397509419
ExAC:
3:42730521 G / A
gnomAD v2:
3-42730521-G-A
gnomAD v3:
3-42689029-G-A
gnomAD v4:
3-42689029-G-A
PubMed:
PMID:23746549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42689029G>A , CM000665.2:g.42689029G>A | GRCh38 |
| NC_000003.11:g.42730521G>A , CM000665.1:g.42730521G>A | GRCh37 |
| NC_000003.10:g.42705525G>A | NCBI36 |
| NG_033035.1:g.8511G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287777.5:c.1582G>A MANE Select | ENSP00000287777.4:p.Glu528Lys | |
| ENST00000287777.4:c.1582G>A | ENSP00000287777.4:p.Glu528Lys | |
| NM_152393.3:c.1582G>A | NP_689606.2:p.Glu528Lys | |
| XM_005264866.2:c.1474G>A | XP_005264923.1:p.Glu492Lys | |
| NM_152393.4:c.1582G>A MANE Select | NP_689606.2:p.Glu528Lys |